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A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia

PloS one, 2013-01, Vol.8 (1), p.e53826-e53826

2013

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MUSK, a new target for mutations causing congenital myasthenic syndrome

Human molecular genetics, 2004-12, Vol.13 (24), p.3229-3240

2004

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Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies

American journal of human genetics, 2002-10, Vol.71 (4), p.739-749

2002

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The origin of tubular aggregates in human myopathies

The Journal of pathology, 2005-11, Vol.207 (3), p.313-323

2005

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A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene

Annals of neurology, 2002-06, Vol.51 (6), p.750-759

2002

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SMARTCrane, a Fives’ Digital Solution for Aluminium Production Optimization

Light Metals 2024, p.568-576

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Apoptosis in mitochondrial myopathies is linked to mitochondrial proliferation

Brain (London, England : 1878), 2006-05, Vol.129 (5), p.1249-1259

2006

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Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency

Neuromuscular disorders : NMD, 2003-03, Vol.13 (3), p.236-244

2003

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Aseptic neutrophilic abscess of the vulva

Dermatology (Basel), 2006-01, Vol.212 (1), p.80-81

2006

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A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis

Neuromuscular disorders : NMD, 2006-03, Vol.16 (3), p.178-182

2006

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Abnormal Distribution of Calcium-Handling Proteins: A Novel Distinctive Marker in Core Myopathies

Journal of neuropathology and experimental neurology, 2007-01, Vol.66 (1), p.57-65

2007

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Phosphonocationic Lipids in Protein Delivery to Mice Lungs

Journal of pharmaceutical sciences, 2000-05, Vol.89 (5), p.639-645

2000

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Modulation of Cardiovascular Functions by Angiotensin II within the Brainstem of Conscious Trout, Oncorhynchus mykiss

Annals of the New York Academy of Sciences, 1998-05, Vol.839 (1), p.414-415

1998

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Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation

Neuromuscular disorders : NMD, 2004, Vol.14 (1), p.24-32

2004

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Evaluation of muscle glycogen content by 13C NMR spectroscopy in adult-onset acid maltase deficiency

Neuromuscular disorders : NMD, 2003-09, Vol.13 (7), p.545-553

2003

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Cationic phosphonolipids as nonviral gene transfer agents in the lungs of mice

Human gene therapy, 1998-11, Vol.9 (16), p.2309-2319

1998

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The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease

Human molecular genetics, 2016-04, Vol.25 (8), p.1559-1573

2016

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Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia

Brain (London, England : 1878), 2003-11, Vol.126 (11), p.2341-2349

2003

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Role of dorsal vagal motor nucleus in angiotensin II-mediated tachycardia in the conscious trout Oncorhynchus mykiss

Brain research, 1997-10, Vol.772 (1), p.167-175

1997

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The binding of some human antiendothelial cell antibodies induces endothelial cell apoptosis

The Journal of clinical investigation, 1998-05, Vol.101 (10), p.2029-2035

1998

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Caecum: A Potential Site for Studying Gene Transfer in vivo

Journal of liposome research, 2000-01, Vol.10 (1), p.61-71

2000

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Muscle imaging in dominant core myopathies linked or unlinked to the ryanodine receptor 1 gene

Neurology, 2006-12, Vol.67 (12), p.2217-2220

2006

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AMP-deaminase in elasmobranch fish: A comparative histochemical and enzymatic study

Comparative Biochemistry and Physiology Part B: Biochemistry and Molecular Biology, 2005-08, Vol.141 (4), p.472-479

2005

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Localisation temporale d'un lymphome

Annales de médecine interne, 2000, Vol.151 (6), p.513-515

2000

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A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia

MUSK, a new target for mutations causing congenital myasthenic syndrome

Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies

The origin of tubular aggregates in human myopathies

A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene

Correction: A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia

SMARTCrane, a Fives’ Digital Solution for Aluminium Production Optimization

Apoptosis in mitochondrial myopathies is linked to mitochondrial proliferation

Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency

Aseptic neutrophilic abscess of the vulva

A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis

Abnormal Distribution of Calcium-Handling Proteins: A Novel Distinctive Marker in Core Myopathies

Phosphonocationic Lipids in Protein Delivery to Mice Lungs

Modulation of Cardiovascular Functions by Angiotensin II within the Brainstem of Conscious Trout, Oncorhynchus mykiss

Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation

Evaluation of muscle glycogen content by 13C NMR spectroscopy in adult-onset acid maltase deficiency

Cationic phosphonolipids as nonviral gene transfer agents in the lungs of mice

The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease

Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia

Role of dorsal vagal motor nucleus in angiotensin II-mediated tachycardia in the conscious trout Oncorhynchus mykiss

The binding of some human antiendothelial cell antibodies induces endothelial cell apoptosis

Caecum: A Potential Site for Studying Gene Transfer in vivo

Muscle imaging in dominant core myopathies linked or unlinked to the ryanodine receptor 1 gene

AMP-deaminase in elasmobranch fish: A comparative histochemical and enzymatic study

Localisation temporale d'un lymphome

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